View gene TGM1

General information
Gene symbol TGM1
Gene name transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)
Chromosome 14
Chromosomal band q11.2
Imprinted Unknown
Genomic reference NG_007150.1
Transcript reference NM_000359.2
Exon/intron information NM_000359.2
Associated with diseases ARCI-1, ARCI-2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Michel van Geel
Total number of public variants reported 156
Unique public DNA variants reported 69
Individuals with public variants 156
Hidden variants 60
Date created April 05, 2011
Date last updated March 09, 2015
Version TGM1:150309

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.LOVD.nl/TGM1
External URL Orphanet
HGNC 11777
Entrez Gene 7051
PubMed articles TGM1
OMIM - Gene 190195
OMIM - Diseases ARCI-1 (ichthyosis, congenital, autosomal recessive, type 1 (ARCI-1))
ARCI-2 (ichthyosis, congenital, autosomal recessive, type 2 (ARCI-2))
HGMD TGM1
GeneCards TGM1
GeneTests TGM1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000098 14 transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) NM_000359.2 NP_000350.1 216


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